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Frequency of single nucleotide polymorphisms in the P‐glycoprotein drug transporter MDR1 gene in white subjects
P‐glycoprotein, the gene product of MDR1, confers multidrug resistance against antineoplastic agents but also plays an important role in the bioavailability of common drugs in medical treatment.
Reduced Paneth cell alpha-defensins in ileal Crohn's disease.
TLDR
It is reported that patients with CD of the ileum have reduced antibacterial activity in their intestinal mucosal extracts, and changes in HD5 expression levels, comparable to those observed in CD, had a pronounced impact on the luminal microbiota.
Antimalarial Artemisinin Drugs Induce Cytochrome P450 and MDR1 Expression by Activation of Xenosensors Pregnane X Receptor and Constitutive Androstane Receptor
TLDR
Activation of PXR and CAR and especially the resulting induction of CYP3A4 and MDR1 demonstrate that artemisinin has a higher risk of potential drug interactions than anticipated previously.
Expression of organic cation transporters OCT1 (SLC22A1) and OCT3 (SLC22A3) is affected by genetic factors and cholestasis in human liver
TLDR
Cholestasis and genetic variants are identified as critical determinants for considerable interindividual variability of hepatic OCT1 and OCT3 expression and consequences for hepatic elimination of and response to OCT substrates such as metformin are indicated.
Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants.
TLDR
The results of this study provide a solid basis to predict TPMT phenotype in a Northern European Caucasian population by molecular diagnostics.
High plasma pravastatin concentrations are associated with single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide-C (OATP-C, SLCO1B1).
This study aimed to characterize possible relationships between polymorphisms in the drug transporter genes organic anion transporting polypeptide-C (OATP-C, SLCO1B1), OATP-B (SLCO2B1), multidrug
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.
TLDR
It was shown that healthy individuals, as well as patients with ulcerative colitis, have a median of 4 HBD-2 gene copies per genome, which predisposes to colonic CD, most likely through diminished beta-defensin expression.
Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group.
TLDR
DPYD, TYMS, and MTHFR play a limited role for FU related toxicity but a pronounced DPYD gene/sex-interaction increases prediction rate for male patients, and toxicity risk assessment should include sex, mode of administration, and folinic acid as additional predictive factors.
Aberrant Splicing Caused by Single Nucleotide Polymorphism c.516G>T [Q172H], a Marker of CYP2B6*6, Is Responsible for Decreased Expression and Activity of CYP2B6 in Liver
TLDR
Novel data is presented showing that hepatic CYP2B6 mRNA levels are reduced in *6 carriers, suggesting a pretranslational mechanism resulting in decreased expression, and the mechanism of the common *6 allele involves predominantly aberrant splicing, thus leading to reduced functional mRNA, protein, and activity.
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